Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 18187 | 54784;54785;54786 | chr2:178604128;178604127;178604126 | chr2:179468855;179468854;179468853 |
| N2AB | 16546 | 49861;49862;49863 | chr2:178604128;178604127;178604126 | chr2:179468855;179468854;179468853 |
| N2A | 15619 | 47080;47081;47082 | chr2:178604128;178604127;178604126 | chr2:179468855;179468854;179468853 |
| N2B | 9122 | 27589;27590;27591 | chr2:178604128;178604127;178604126 | chr2:179468855;179468854;179468853 |
| Novex-1 | 9247 | 27964;27965;27966 | chr2:178604128;178604127;178604126 | chr2:179468855;179468854;179468853 |
| Novex-2 | 9314 | 28165;28166;28167 | chr2:178604128;178604127;178604126 | chr2:179468855;179468854;179468853 |
| Novex-3 | None | None | chr2:None | chr2:None |
Information
Reported SAVs
| SNV | RS | DUET |
PolyPhen-2 |
Condel |
Rhapsody |
REVEL |
MVP |
Source |
MAF |
Disease |
Zygosity |
Site annotation |
mCSM PPI |
Predicted PPI site |
Comments |
AFR |
AMR |
AMS |
ASJ |
EAS |
EUR |
FIN |
MDE |
NFE |
SAS |
OTH |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| W/C | rs2054184713  |
None | 1.0 | D | 0.818 | 0.669 | 0.707629541401 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| W/C | rs2054184713 |
None | 1.0 | D | 0.818 | 0.669 | 0.707629541401 | gnomAD-4.0.0 | 6.58042E-06 | None | None | None | None | N | None | 2.41453E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| W/G | rs796392077 |
-3.32 | 1.0 | D | 0.82 | 0.831 | 0.765374676318 | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | N | None | 1.14837E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| W/G | rs796392077 |
-3.32 | 1.0 | D | 0.82 | 0.831 | 0.765374676318 | gnomAD-3.1.2 | 1.32E-05 | None | None | None | None | N | None | 4.83E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| W/G | rs796392077 |
-3.32 | 1.0 | D | 0.82 | 0.831 | 0.765374676318 | gnomAD-4.0.0 | 3.04529E-06 | None | None | None | None | N | None | 5.24347E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
Saturation Mutagenesis
SAV |
AlphaMissense (IC) |
AlphaMissense Class (IC) |
AlphaMissense (N2AB) |
AlphaMissense Class (N2AB) |
mCSM |
mCSM class |
PolyPhen-2 |
PolyPhen-2 Class |
Rhapsody |
Rhapsody Class |
Condel |
Condel Score |
Site annotation |
mCSM PPI |
Predicted PPI site |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| W/A | 0.9959 | likely_pathogenic | 0.9937 | pathogenic | -3.608 | Highly Destabilizing | 1.0 | D | 0.87 | deleterious | None | None | None | None | N |
| W/C | 0.9946 | likely_pathogenic | 0.993 | pathogenic | -2.003 | Highly Destabilizing | 1.0 | D | 0.818 | deleterious | D | 0.659523937 | None | None | N |
| W/D | 0.9993 | likely_pathogenic | 0.9991 | pathogenic | -3.803 | Highly Destabilizing | 1.0 | D | 0.899 | deleterious | None | None | None | None | N |
| W/E | 0.9993 | likely_pathogenic | 0.999 | pathogenic | -3.683 | Highly Destabilizing | 1.0 | D | 0.867 | deleterious | None | None | None | None | N |
| W/F | 0.5707 | likely_pathogenic | 0.5962 | pathogenic | -2.308 | Highly Destabilizing | 1.0 | D | 0.815 | deleterious | None | None | None | None | N |
| W/G | 0.9834 | likely_pathogenic | 0.974 | pathogenic | -3.847 | Highly Destabilizing | 1.0 | D | 0.82 | deleterious | D | 0.659523937 | None | None | N |
| W/H | 0.9962 | likely_pathogenic | 0.9952 | pathogenic | -2.88 | Highly Destabilizing | 1.0 | D | 0.845 | deleterious | None | None | None | None | N |
| W/I | 0.9853 | likely_pathogenic | 0.9801 | pathogenic | -2.668 | Highly Destabilizing | 1.0 | D | 0.887 | deleterious | None | None | None | None | N |
| W/K | 0.9996 | likely_pathogenic | 0.9995 | pathogenic | -2.719 | Highly Destabilizing | 1.0 | D | 0.866 | deleterious | None | None | None | None | N |
| W/L | 0.9654 | likely_pathogenic | 0.9497 | pathogenic | -2.668 | Highly Destabilizing | 1.0 | D | 0.82 | deleterious | D | 0.626244029 | None | None | N |
| W/M | 0.9908 | likely_pathogenic | 0.9882 | pathogenic | -2.136 | Highly Destabilizing | 1.0 | D | 0.801 | deleterious | None | None | None | None | N |
| W/N | 0.9994 | likely_pathogenic | 0.9992 | pathogenic | -3.38 | Highly Destabilizing | 1.0 | D | 0.895 | deleterious | None | None | None | None | N |
| W/P | 0.9994 | likely_pathogenic | 0.9991 | pathogenic | -3.015 | Highly Destabilizing | 1.0 | D | 0.899 | deleterious | None | None | None | None | N |
| W/Q | 0.9994 | likely_pathogenic | 0.9991 | pathogenic | -3.241 | Highly Destabilizing | 1.0 | D | 0.875 | deleterious | None | None | None | None | N |
| W/R | 0.9987 | likely_pathogenic | 0.998 | pathogenic | -2.383 | Highly Destabilizing | 1.0 | D | 0.901 | deleterious | D | 0.659523937 | None | None | N |
| W/S | 0.9953 | likely_pathogenic | 0.9922 | pathogenic | -3.543 | Highly Destabilizing | 1.0 | D | 0.869 | deleterious | D | 0.643504576 | None | None | N |
| W/T | 0.9964 | likely_pathogenic | 0.9949 | pathogenic | -3.345 | Highly Destabilizing | 1.0 | D | 0.843 | deleterious | None | None | None | None | N |
| W/V | 0.9816 | likely_pathogenic | 0.9756 | pathogenic | -3.015 | Highly Destabilizing | 1.0 | D | 0.867 | deleterious | None | None | None | None | N |
| W/Y | 0.9395 | likely_pathogenic | 0.9346 | pathogenic | -2.149 | Highly Destabilizing | 1.0 | D | 0.763 | deleterious | None | None | None | None | N |
Titin has multiple isoforms, the longest being the theoretical IC (inferred complete) isoform which contains all 363 in-frame titin exons. Here all isoform positions have been mapped onto the IC sequence, with an exception being the C-terminal of the much shorter novex-3 isoform. This contains the out of frame exon 48 which cannot be mapped to the other isoforms.